Linked Data
ClinVar Variation Id:
543544
dbSNP Id:
rs370878600
ExAC:
8:27320712 C / G
gnomAD v2:
8-27320712-C-G
gnomAD v3:
8-27463195-C-G
gnomAD v4:
8-27463195-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463195C>G , CM000670.2:g.27463195C>G | GRCh38 |
| NC_000008.10:g.27320712C>G , CM000670.1:g.27320712C>G | GRCh37 |
| NC_000008.9:g.27376629C>G | NCBI36 |
| NG_015827.1:g.21102G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407991.3:c.1248G>C MANE Select | ENSP00000385026.1:p.Val416= | |
| ENST00000240132.7:c.1203G>C | ENSP00000240132.2:p.Val401= | |
| ENST00000407991.2:c.1248G>C | ENSP00000385026.1:p.Val416= | |
| ENST00000520600.1:n.290-1441G>C | ||
| ENST00000520933.7:c.1182G>C | ENSP00000429616.2:p.Val394= | |
| ENST00000523695.5:c.*650G>C | ENSP00000430612.1:n.*650G>C | |
| NM_000742.3:c.1248G>C | NP_000733.2:p.Val416= | |
| NM_001282455.1:c.1203G>C | NP_001269384.1:p.Val401= | |
| XM_005273397.1:c.771G>C | XP_005273454.1:p.Val257= | |
| XM_006716282.1:c.1248G>C | XP_006716345.1:p.Val416= | |
| XM_011544388.1:c.1248G>C | XP_011542690.1:p.Val416= | |
| XM_011544389.1:c.654G>C | XP_011542691.1:p.Val218= | |
| NM_001347705.1:c.771G>C | NP_001334634.1:p.Val257= | |
| NM_001347706.1:c.771G>C | NP_001334635.1:p.Val257= | |
| NM_001347707.1:c.654G>C | NP_001334636.1:p.Val218= | |
| NM_001347708.1:c.654G>C | NP_001334637.1:p.Val218= | |
| XM_011544389.2:c.654G>C | XP_011542691.1:p.Val218= | |
| NM_000742.4:c.1248G>C MANE Select | NP_000733.2:p.Val416= | |
| NM_001282455.2:c.1203G>C | NP_001269384.1:p.Val401= | |
| NM_001347705.2:c.771G>C | NP_001334634.1:p.Val257= | |
| NM_001347706.2:c.771G>C | NP_001334635.1:p.Val257= | |
| NM_001347707.2:c.654G>C | NP_001334636.1:p.Val218= | |
| NM_001347708.2:c.654G>C | NP_001334637.1:p.Val218= |